Image Description
In juvenile polyposis syndrome, about 50% of patients show mutations in SMAD4 (most commonly) or BMPR1A - both of which are involved in TGF-β signaling pathway. The pathogenesis in the remaining 50% of cases is unknown.
The image shows a few distorted glands in an expanded lamina propria full of acute and chronic inflammatory cells in a juvenile polyp.
About the Disease
Hamartomatous polyps of gastrointestinal tract occur sporadically as well as components of genetic or acquired syndromes. When occurring in the syndromic setting, some of them are associated with germline mutations in tumor suppressor genes or oncogenes and carry increased risk of malignancies. Juvenile polyps and polyps associated with Peutz-Jeghers Syndrome will be addressed in this section. References: 1. Feldman, M., Friedman, L. S., & Brandt, L. J. (2016). Sleisenger & Fordtrans Gastrointestinal & Liver Disease; 10th Edition. Philadelphia, PA. Elsevier Saunders. 2. Goldblum, J. R. et al (2018). Rosai and Ackermans Surgical Pathology; Eleventh Edition. Philadelphia, PA. Elsevier. 3. Kumar, V., Abbas, A. K., & Aster, J. C. (2015). Robbins and Cotran Pathologic Basis of Disease; Ninth Edition. Philadelphia, PA. Elsevier.